Canonical Allele Identifier: CA2082834391
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398224G= , CM000675.2:g.32398224G= GRCh38
NC_000013.10:g.32972361G= , CM000675.1:g.32972361G= GRCh37
NC_000013.9:g.31870361G= NCBI36
NG_012772.3:g.87745G= , LRG_293:g.87745G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*234G= ENSP00000434898.2:n.*234G=
ENST00000528762.2:c.*1078G= ENSP00000433168.2:n.*1078G=
ENST00000530893.7:c.9342G= ENSP00000499438.2:p.Arg3114=
ENST00000665585.2:c.*1273G= ENSP00000499570.2:n.*1273G=
ENST00000700202.2:c.9660G= ENSP00000514856.2:p.Arg3220=
ENST00000700202.1:c.2127G= ENSP00000514856.1:p.Arg709=
ENST00000700203.1:n.1838G=
ENST00000380152.8:c.9711G= MANE Select ENSP00000369497.3:p.Arg3237=
ENST00000544455.6:c.9711G= ENSP00000439902.1:p.Arg3237=
ENST00000614259.2:c.9719G= ENSP00000506251.1:n.9719G=
ENST00000665585.1:c.2589G=
ENST00000680887.1:c.9711G= ENSP00000505508.1:p.Arg3237=
ENST00000380152.7:c.9711G= ENSP00000369497.3:p.Arg3237=
ENST00000470094.1:c.794G=
ENST00000533776.1:n.299G=
ENST00000544455.5:c.9711G= ENSP00000439902.1:p.Arg3237=
NM_000059.3:c.9711G= , LRG_293t1:c.9711G= NP_000050.2:p.Arg3237=
XM_011535203.1:c.9711G= XP_011533505.1:p.Arg3237=
XM_011535204.1:c.9615G= XP_011533506.1:p.Arg3205=
NM_000059.4:c.9711G= MANE Select NP_000050.3:p.Arg3237=